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Annals of Physical and Rehabilitation... May 2020Muscle contractures are common after stroke and their treatment usually involves stretching. However, recent meta-analyses concluded that stretching does not increase...
BACKGROUND
Muscle contractures are common after stroke and their treatment usually involves stretching. However, recent meta-analyses concluded that stretching does not increase passive joint amplitudes in patients with stroke. The effectiveness of treatment is usually evaluated by measuring range of motion alone; however, assessing the effects of stretching on the structural and mechanical properties of muscle by evaluating the torque-angle relationship can help in understanding the effects of stretching. Although several studies have evaluated this, the effects remain unclear.
OBJECTIVE
A systematic review of the literature on the effectiveness of stretching procedures for which the outcomes included a measurement of torque associated with range of motion or muscle structure (e.g., fascicle length) in stroke survivors.
METHODS
PubMed, ScienceDirect and PEDro databases were searched by 2 independent reviewers for relevant studies on the effects of chronic stretching interventions (>4 weeks) that evaluated joint angle and passive torque or muscle structure or stiffness. The quality of the studies was assessed with the PEDro scale.
RESULTS
Eight randomized clinical trials (total of 290 participants) met the inclusion criteria, with highly variable sample characteristics (at risk/existing contractures), program objectives (prevent/treat contractures) and duration (from 4 to 52 weeks) and volume of stretching (1 to 586 hr). All studies were classified as high quality (>6/10 PEDro score). Six studies focused on the upper limb. Many programs were less than 12 weeks (n=7 studies) and did not change mechanical/structural properties. The longest intervention (52 weeks) increased muscle fascicle length and thickness (plantar flexors).
CONCLUSION
Long interventions involving high stretching volumes and/or loads may have effects on muscle/joint mechanical properties, for preventing/treating contractures after stroke injury, but need to be further explored before firm conclusions are drawn.
Topics: Aged; Biomechanical Phenomena; Contracture; Female; Humans; Male; Middle Aged; Muscle Contraction; Muscle Stretching Exercises; Muscle, Skeletal; Randomized Controlled Trials as Topic; Stroke; Stroke Rehabilitation; Treatment Outcome
PubMed: 31981838
DOI: 10.1016/j.rehab.2019.12.003 -
The Journal of Hand Surgery... Feb 2024Extra-articular proximal phalanx base fractures are common in adults and can lead to permanent finger stiffness and joint contractures. The purpose of this review is to...
Extra-articular proximal phalanx base fractures are common in adults and can lead to permanent finger stiffness and joint contractures. The purpose of this review is to summarise the evidence for operative and non-operative management of this fracture type. The MedLine, Embase, PubMed, Scopus and Cochrane Library databases were searched using the following key terms: 'proximal phalanx', 'base', 'fracture', 'repair' and 'fixation'. A total of 2,889 unique records were extracted. All studies with primary data on the management of extra-articular proximal phalangeal base fractures in adults were included for initial review. Eleven studies met inclusion criteria with a total of 441 extra-articular proximal phalanx base fractures. Outcomes were determined by final total active range of motion. 182 extra-articular proximal phalangeal base fractures were treated non-operatively, with excellent or good outcomes attained in 80% of cases. Another 259 extra-articular proximal phalangeal base fractures were treated operatively, including 236 with Kirschner wires (K-wires), 18 with plates, and five with intramedullary screws. Case-level data were available in 186 fractures managed by K-wire fixation, with excellent or good outcomes achieved in 79% of cases. Excellent or good outcomes were achieved in 35% of cases treated by plates, and 80% of five cases treated by intramedullary screw fixation. Three (1.6%) patients managed conservatively required surgery after reduction loss. No patients managed with K-wires required re-operation for reduction loss; tenolysis/capsulotomy was required in 11 (4.5%) cases for stiffness, and pin site infections occurred in eight (3.5%) cases. Complex regional pain syndrome occurred in five cases (28%) of plate fixation. In summary, excellent or good results may be achieved by K-wire pinning or conservative management. Current evidence is limited for plate or intramedullary screw fixation. Prospective trials and outcomes standardisation are needed to improve the evidence base. Level III (Therapeutic).
Topics: Adult; Humans; Prospective Studies; Range of Motion, Articular; Fractures, Bone; Fracture Fixation, Internal; Bone Wires
PubMed: 38299241
DOI: 10.1142/S2424835524500085 -
Case Reports in Genetics 2020Shprintzen-Goldberg craniosynostosis syndrome (SGS) is a rare autosomal dominant condition that was first documented in literature in 1982. The disorder is caused by...
Shprintzen-Goldberg craniosynostosis syndrome (SGS) is a rare autosomal dominant condition that was first documented in literature in 1982. The disorder is caused by pathogenic variants in the proto-oncogene gene, a known suppressor of TGF- activity, located on chromosome 1p36. There is considerable phenotypic overlap with Marfan and Loeys-Dietz syndromes. Common clinical features of SGS include craniosynostosis, marfanoid habitus, hypotonia, dysmorphic facies, cardiovascular anomalies, and other skeletal and connective tissue abnormalities. Ocular manifestations may include hypertelorism, downslanting palpebral fissures, proptosis, myopia, and ectopia lentis. We describe a 25-year-old male with the syndrome. Genetic analysis revealed a novel c.350G>A (p.Arg117His) variant, which was predicted to be pathogenic by the CTGT laboratory. The patient presented with dysmorphic features, marfanoid habitus, severe joint contractures, mitral valve insufficiency, aortic root dilatation, and a history of seizures. His ocular manifestations included hypertelorism, downslanting palpebral fissures, bilateral ptosis, and high myopia. Ophthalmic manifestations are an integral component of the syndrome; however, they have not been well characterized in the literature. From a systematic review of previously published cases to date, we summarize the eye and ocular adnexa manifestations reported.
PubMed: 33628537
DOI: 10.1155/2020/7353452 -
JBJS Reviews Jun 2023In the past decade, distal femur anterior hemiepiphysiodesis for fixed knee flexion deformity has gained popularity. In this study, we aim to systematically review the...
BACKGROUND
In the past decade, distal femur anterior hemiepiphysiodesis for fixed knee flexion deformity has gained popularity. In this study, we aim to systematically review the literature on this technique as a treatment for fixed knee flexion deformity in patients with neuromuscular disorders.
METHODS
A systematic review was performed in the following databases: PubMed, Embase, and Medline. The inclusion criteria included anterior hemiepiphysiodesis of the distal femur for patients with neuromuscular disorders and fixed knee flexion deformities.
RESULTS
Our search yielded 419 titles. A total of 12 articles were qualified for final review based on the inclusion and exclusion criteria. The total number of patients was 279, with 483 knees corrected. The male to female ratio was 2.1:1, and the mean age of the patients was 11.3 ± 1.4 years (range 4-17 years). The mean preoperative flexion deformity was 23.1° ± 10.0° (range 10°-90°). The mean residual flexion deformity at the final follow-up was 8.6° ± 9.0° (range 0°-32.5°), which corresponds to a statistically significant decrease compared with the preoperative deformity (p < 0.05).
CONCLUSION
Anterior hemiepiphysiodesis for fixed knee flexion deformity provides favourable outcomes with low complication rates in patients with neuromuscular disorders. Future studies should focus on comparing the long-term outcomes of the different metal implants used for these operations.
LEVEL OF EVIDENCE
Level III. See Instructions for Authors for a complete description of levels of evidence.
Topics: Humans; Male; Female; Child, Preschool; Child; Adolescent; Follow-Up Studies; Treatment Outcome; Knee Joint; Femur; Contracture; Neuromuscular Diseases
PubMed: 37276266
DOI: 10.2106/JBJS.RVW.23.00001 -
Ultrasound in Obstetrics & Gynecology :... Oct 2021To determine the incremental yield of exome sequencing (ES) over chromosomal microarray analysis (CMA) or karyotyping in prenatally diagnosed non-immune hydrops fetalis... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To determine the incremental yield of exome sequencing (ES) over chromosomal microarray analysis (CMA) or karyotyping in prenatally diagnosed non-immune hydrops fetalis (NIHF).
METHODS
A prospective cohort study (comprising an extended group of the Prenatal Assessment of Genomes and Exomes (PAGE) study) was performed which included 28 cases of prenatally diagnosed NIHF undergoing trio ES following negative CMA or karyotyping. These cases were combined with data from a systematic review of the literature. MEDLINE, EMBASE, CINAHL and ClinicalTrials.gov databases were searched electronically (January 2000 to October 2020) for studies reporting on the incremental yield of ES over CMA or karyotyping in fetuses with prenatally detected NIHF. Inclusion criteria for the systematic review were: (i) at least two cases of NIHF undergoing sequencing; (ii) testing initiated based on prenatal ultrasound-based phenotype; and (iii) negative CMA or karyotyping result. The incremental diagnostic yield of ES was assessed in: (i) all cases of NIHF; (ii) isolated NIHF; (iii) NIHF associated with an additional fetal structural anomaly; and (iv) NIHF according to severity (i.e. two vs three or more cavities affected).
RESULTS
In the extended PAGE study cohort, the additional diagnostic yield of ES over CMA or karyotyping was 25.0% (7/28) in all NIHF cases, 21.4% (3/14) in those with isolated NIHF and 28.6% (4/14) in those with non-isolated NIHF. In the meta-analysis, the pooled incremental yield based on 21 studies (306 cases) was 29% (95% CI, 24-34%; P < 0.00001; I = 0%) in all NIHF, 21% (95% CI, 13-30%; P < 0.00001; I = 0%) in isolated NIHF and 39% (95% CI, 30-49%; P < 0.00001; I = 1%) in NIHF associated with an additional fetal structural anomaly. In the latter group, congenital limb contractures were the most prevalent additional structural anomaly associated with a causative pathogenic variant, occurring in 17.3% (19/110) of cases. The incremental yield did not differ significantly according to hydrops severity. The most common genetic disorders identified were RASopathies, occurring in 30.3% (27/89) of cases with a causative pathogenic variant, most frequently due to a PTPN11 variant (44.4%; 12/27). The predominant inheritance pattern in causative pathogenic variants was autosomal dominant in monoallelic disease genes (57.3%; 51/89), with most being de novo (86.3%; 44/51).
CONCLUSIONS
Use of prenatal next-generation sequencing in both isolated and non-isolated NIHF should be considered in the development of clinical pathways. Given the wide range of potential syndromic diagnoses and heterogeneity in the prenatal phenotype of NIHF, exome or whole-genome sequencing may prove to be a more appropriate testing approach than a targeted gene panel testing strategy. © 2021 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Female; High-Throughput Nucleotide Sequencing; Humans; Hydrops Fetalis; Karyotyping; Microarray Analysis; Predictive Value of Tests; Pregnancy; Prenatal Diagnosis; Prospective Studies; Exome Sequencing
PubMed: 33847422
DOI: 10.1002/uog.23652